Variant report

Variant	rs11187721
Chromosome Location	chr10:95653149-95653150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:95652616-95655127	SK-N-SH	brain:	n/a	n/a
2	ZBTB7A	chr10:95653083-95654583	ECC-1	luminal epithelium:	n/a	n/a
3	NRF1	chr10:95653010-95654084	SK-N-SH	brain:	n/a	chr10:95653689-95653703 chr10:95653686-95653700 chr10:95654017-95654026 chr10:95653689-95653698 chr10:95653689-95653700 chr10:95653691-95653700 chr10:95653689-95653700

No.	Distal block	Cell Line	Cell type
1	chr10:95461845..95463891-chr10:95652096..95654090,2	K562	blood:
2	chr10:95652670..95655434-chr10:96073530..96076292,2	MCF-7	breast:
3	chr10:95652427..95653943-chr9:140113514..140115892,2	MCF-7	breast:
4	chr10:95650731..95653563-chr10:96121440..96124256,2	MCF-7	breast:

Variant related genes	Relation type
SLC35G1	TF binding region
ENSG00000173145	Chromatin interaction
ENSG00000273450	Chromatin interaction
ENSG00000148690	Chromatin interaction
ENSG00000212864	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10786145	0.95[ASN][1000 genomes]
rs10882355	0.95[ASN][1000 genomes]
rs10882356	0.95[ASN][1000 genomes]
rs10882362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11187680	0.90[ASN][1000 genomes]
rs11187722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187723	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12356200	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413002	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17412233	0.83[MEX][hapmap]
rs2113955	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34424393	0.95[ASN][1000 genomes]
rs35629779	1.00[ASN][1000 genomes]
rs4919616	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7068140	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096071	1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11187721	MMS19	cis	cerebellum	SCAN
rs11187721	RPL13AP5	cis	cerebellum	SCAN
rs11187721	EXOC6	cis	parietal	SCAN
rs11187721	PLCE1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95651800-95653200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:95652600-95653200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:95652600-95653200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr10:95652600-95653200	Enhancers	Fetal Lung	lung
5	chr10:95652800-95653200	Active TSS	Duodenum Mucosa	Duodenum
6	chr10:95652800-95653200	Enhancers	Fetal Kidney	kidney
7	chr10:95652800-95653200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:95652800-95653200	Enhancers	Hela-S3	cervix
9	chr10:95652800-95653200	Active TSS	NHEK	skin
10	chr10:95652800-95654200	Active TSS	Osteobl	bone
11	chr10:95652800-95654600	Active TSS	Brain Angular Gyrus	brain
12	chr10:95653000-95653200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:95653000-95653200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:95653000-95653200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:95653000-95653200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:95653000-95653200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:95653000-95653200	Enhancers	Primary T cells from cord blood	blood
18	chr10:95653000-95653200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr10:95653000-95653200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr10:95653000-95653200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:95653000-95653200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:95653000-95653200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:95653000-95653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:95653000-95653200	Enhancers	Adipose Nuclei	Adipose
25	chr10:95653000-95653200	Enhancers	Brain Cingulate Gyrus	brain
26	chr10:95653000-95653200	Enhancers	Colon Smooth Muscle	Colon
27	chr10:95653000-95653200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr10:95653000-95653200	Enhancers	Fetal Brain Female	brain
29	chr10:95653000-95653200	Enhancers	Fetal Intestine Large	intestine
30	chr10:95653000-95653400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:95653000-95653400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr10:95653000-95653400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:95653000-95653600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:95653000-95654200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:95653000-95654200	Active TSS	Fetal Brain Male	brain
36	chr10:95653000-95654200	Active TSS	GM12878-XiMat	blood
37	chr10:95653000-95654200	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr10:95653000-95654400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:95653000-95654400	Active TSS	NH-A	brain
40	chr10:95653000-95654600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:95653000-95654600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr10:95653000-95654600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr10:95653000-95654600	Active TSS	A549	lung
44	chr10:95653000-95654600	Active TSS	HepG2	liver
45	chr10:95653000-95654600	Active TSS	K562	blood
46	chr10:95653000-95654800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:95653000-95655200	Active TSS	Rectal Smooth Muscle	rectum

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